| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.143341938C>T | CA341539 | CLCN1 | c.1592C>T (p.Ala531Val) c.1416C>T n.1532C>T c.1616C>T (p.Ala539Val) c.338C>T (p.Ala113Val) c.1166C>T (p.Ala389Val) c.1142C>T (p.Ala381Val) n.1547C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.143341938C= | CA1748893908 | CLCN1 | c.1592C= (p.Ala531=) c.1416C= n.1532C= c.1616C= (p.Ala539=) c.338C= (p.Ala113=) c.1166C= (p.Ala389=) c.1142C= (p.Ala381=) n.1547C= | dbSNP |